V55I (p.Val55Ile) variant of HBD (Hemoglobin subunit delta)
V55I (p.Val55Ile) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- gnomAD 11-5234143-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.29
- MetaSVM -0.62
- CADD 0.45
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Literature evidence available